{"orpha":2400,"name":"Peripheral motor neuropathy-dysautonomia syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Lisker-Garcia-Ramos syndrome"],"definition":"A rare peripheral motor neuropathy characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, and autonomic dysfunction, manifesting as profuse sweating, cold-induced distal cyanosis, orthostatic hypotension, and esophageal achalasia. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2400/","orphanet_url":"https://www.orpha.net/en/disease/detail/2400","names":{"fr":{"name":"Syndrome de neuropathie périphérique-dysautonomie","synonyms":["Syndrome de Lisker-Garcia-Ramos"],"definition":"Le syndrome de neuropathie périphérique-dysautonomie est caractérisé par une faiblesse distale lentement progressive, une amyotrophie débutant dans l'enfance, des troubles du système nerveux autonome incluant transpiration excessive, cyanose distale (en cas de temps froid), hypotension orthostatique, et une achalasie. Il a été décrit chez deux soeurs. La transmission est autosomique récessive."},"de":{"name":"Periphere motorische Neuropathie-Dysautonomie-Syndrom","synonyms":["Lisker-Garcia-Ramos-Syndrom"],"definition":"Eine seltene periphere motorische Neuropathie, die durch distale, langsam fortschreitende Muskelschwäche, Amyotrophie im Kindesalter und autonome Dysfunktion gekennzeichnet ist und sich in Form von starkem Schwitzen, kälteinduzierter distaler Zyanose, orthostatischer Hypotonie und Ösophagusachalasie äußert. Seit 1981 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de neuropatía motora periférica-disautonomía","synonyms":["Síndrome de Lisker-García-Ramos"],"definition":"Es un síndrome caracterizado por debilidad muscular distal lentamente progresiva, amiotrofia de inicio en la infancia, y disfunción autonómica caracterizada por sudoración profusa, cianosis distal relacionada con el clima frío, hipotensión ortostática y acalasia esofágica. Se ha descrito en dos hermanas. La transmisión parece ser de carácter autosómico recesivo."},"it":{"name":"Neuropatia motoria periferica - disautonomia","synonyms":["Sindrome di Lisker-Garcia-Ramos"]},"nl":{"name":"Perifere motorische neuropathie - dysautonomie-syndroom","synonyms":["Syndroom van Lisker-Garcia-Ramos"],"definition":"Een zeldzame perifere motorische neuropathie, gekenmerkt door distale, traag progressieve spierzwakte, in de kindertijd optredende amyotrofie, en autonome disfunctie, die zich manifesteert als overmatige transpiratie, koudegeïnduceerde distale cyanose, orthostatische hypotensie, en achalasie van oesofagus. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de neuropatia motora periférica-disautonomia","synonyms":["Síndrome Lisker-Garcia-Ramos"]},"pl":{"name":"Obwodowa neuropatia ruchowa - dysautonomia","synonyms":["Zespół Liskera, Garcia i Ramosa"]},"cs":{"name":"Syndrom zahrnující periferní motorickou neuropatii a dysautonomii","synonyms":["Liskerův-García-Ramosův syndrom","Lisker-García-Ramosův syndrom"]},"uk":{"name":"Синдром периферичної моторної нейропатії-дисавтономії","synonyms":["Синдром Ліскера-Гарсія-Рамоса"],"definition":"Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive."},"zh":{"name":"周围运动神经病变-自主神经功能异常综合征","synonyms":["Lisker-Garcia-Ramos综合征"]},"tr":{"name":"Periferik motor nöropati-disotonomi sendromu","synonyms":["Lisker-Garcia-Ramos sendromu"]}},"xrefs":[{"source":"OMIM","code":"252320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1468523039"},{"source":"MONDO","code":"0009648","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536988","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854961","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":448426,"name":"Genetic primary orthostatic hypotension","classifications":[156]},{"orpha":182058,"name":"Primary orthostatic hypotension","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7282784[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7282784[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-24","source":null,"terms":[{"hpo":"HP:0002571","label":"Achalasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null}]}}